Gene: RBPJ
Alternate names for this Gene: AOS3|CBF-1|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBP-J kappa|RBP-JK|RBPJK|RBPSUH|SUH|csl
Gene Summary: The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9.
Gene is located in Chromosome: 4
Location in Chromosome : 4p15.2
Description of this Gene: recombination signal binding protein for immunoglobulin kappa J region
Type of Gene: protein-coding
rs1553878211 in
RBPJ gene and
ADAMS-OLIVER SYNDROME 3
PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
PMID 22883147 2012 RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
rs17644283 in
RBPJ gene and
Waist-Hip Ratio
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.